Clinical Exploration of Adeno-associated Virus (AAV) Expressing Human Acid Alpha- Glucosidase (GAA) Gene Therapy for Patients With Infantile-onset Pompe Disease

Seventh Medical Center of PLA General Hospital

Status

Enrolling

Conditions

Infantile-onset Pompe Disease

Treatments

Biological: Genetic: GC301

Study type

Interventional

Funder types

Other

Identifiers

NCT05567627

JLJY-GC301-IOPD-003

Details and patient eligibility

About

This study is being conducted to evaluate the safety and effectiveness of GC301 adeno-associated virus vector expressing codon-optimized human acid alpha-glucosidase (GAA) as potential gene therapy for Pompe disease. Patients diagnosed with infantile-onset Pompe disease who are younger than 6 months old will be studied.

Enrollment

6 estimated patients

Sex

All

Ages

Under 6 months old

Volunteers

No Healthy Volunteers

Inclusion criteria

The patient's legal guardian(s) must be able to understand the purpose and risks of the study and voluntarily provide signed and dated informed consent prior to any study-related procedures being performed;
The patient must be no older than 6 months;
The patient must be diagnosed with infantile-onset Pompe disease.

Exclusion criteria

Class IV patient based on Modified Ross Heart Failure Classification for Children;
Aspartate aminotransferase (AST), alanine aminotransferase (ALT) > 3x upper limit of normal (ULN), alkaline phosphatase (ALP) > 2x ULN (with the exception of liver abnormalities related to Pompe disease);
Patient has severe organ dysfunction, such as liver and kidney failure (Liver failure: patients may have liver failure syndrome, including fatigue, severe gastrointestinal symptoms; clinical examination found prolonged prothrombin time, prothrombin activity less than 40%; Neuropsychiatric symptoms, such as restlessness, changes in personality and behavior, lethargy, coma, etc.; Toxic tympanic bowel, ascites, multiple organ dysfunction, etc.; hyperalbuminemia exceeding 171 μmol/L, hypoalbuminemia. Renal failure: creatinine exceeding 110 μmol/L, or glomerular filtration rate less than 100 mL/min), congenital/acquired encephalopathy, etc.;
Patient with congenital organ absence;
Patient with primary immunodeficiency;
Patient who is positive for human immunodeficiency virus (HIV) antibody, hepatitis B surface antigen, hepatitis C antibody, or treponema pallidum antibody;
Patient with a history of glucocorticoid allergy；
Patient who has participated in a previous gene therapy research trial;
Patient who has any concurrent clinically significant major disease or any other condition that, in the opinion of the Investigator, makes the subject unsuitable for participation in the study.